Retinal disorders
Gene: NBAS
Based on the evidence cited by Siying Lin (Moorfields Eye Hospital)(PMIDs: 20577004, 28115293, 36479642, 34110364) and the case found in their clinical practice; cone dysfunction is a feature of the ocular phenotype associated with biallelic NBAS variants.Created: 29 Sep 2023, 11:52 a.m. | Last Modified: 29 Sep 2023, 11:52 a.m.
Panel Version: 4.32
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 29 Sep 2023, 11:44 a.m. | Last Modified: 29 Sep 2023, 11:44 a.m.
Panel Version: 4.31
PMID 20577004: nonprogressive cone dysfunction and optic atrophy associated with a Yakutian founder variant
PMID 28115293: Two siblings homozygous for the recurrent Yakutian variant with optic atrophy and cone dysfunction
PMID 34110364: One individual compound heterozygous with optic atrophy, cone dysfunction and outer retinal disruption on OCT
PMID 36479642: 2 siblings compound heterozygous with optic atrophy as well as cone dysfunction
1 case from Moorfields Eye Hospital with biallelic novel variants (1 LOF 1 missense) with the same phenotype of optic atrophy and cone dysfunction
Cone dysfunction appears to be a consistent feature of NBAS-associated ocular diseaseCreated: 20 Sep 2023, 2:18 p.m. | Last Modified: 20 Sep 2023, 2:18 p.m.
Panel Version: 4.24
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Optic atrophy, Cone dysfunction
Publications
Mode of pathogenicity
Other
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Mode of inheritance for gene: NBAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: nbas has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: NBAS. Tag Q3_23_NHS_review tag was added to gene: NBAS.
Phenotypes for gene: NBAS were changed from to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800; short stature-optic atrophy-Pelger-HuC+t anomaly syndrome, MONDO:0013889
Publications for gene: NBAS were set to
gene: NBAS was added gene: NBAS was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: NBAS was set to